Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
UBE2N_chr12_93400684_93446947	93406275	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp1 NA18942.hp1 NA18947.hp1 others(2): Show HG00609.hp1 NA18942.hp1 NA18947.hp1 NA18948.hp2 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0009 a0001c0001t0018g0206 a0001c0001t0018g0009 a0001c0001t0018g0206	5	61	0.0820	23	c.37 others(34): Show c.3741_*3763dupTTTTTTTTTTTTTTTTTTTTTTT	UBE2N	ENSG00000177889.10	transcript	ENST00000318066.7	protein_coding	4/4	3763		chr12	TogoVar
UBE2O_chr17_76384456_76458152	76388640	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	134	0.0075	23	c.23 others(34): Show c.2302_*2303insAAAAAAAAAAAAAAAAAAAAAAA	UBE2O	ENSG00000175931.13	transcript	ENST00000319380.12	protein_coding		815		chr17	TogoVar
UBE2Q2_chr15_75838447_75906078	75868647	T T	TTAAATTA others(16): Show TTAAATTAGATTTAATTTACATAA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	354	0.0028	23	c.388 others(38): Show c.388-303_388-302insAAATTAGATTTAATTTACATAAT	UBE2Q2	ENSG00000140367.12	transcript	ENST00000267938.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
UBE2R2_chr9_33812160_33925399	33877849	C C	CTCTCTCT others(16): Show CTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0049	1	359	0.0028	23	c.178 others(40): Show c.178-9032_178-9031insTCTCTCTCTCTCTCTCTCTCTCT	UBE2R2	ENSG00000107341.5	transcript	ENST00000263228.4	protein_coding	1/4			chr9	TogoVar
UBE2T_chr1_202326657_202346936	202332907	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA19043.hp1 NA18950.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0087 a0001c0002t0001g0151 a0001c0002t0001g0087 a0001c0002t0001g0151	2	16	0.1250	23	c.468 others(37): Show c.468+80_468+102dupTTTTTTTTTTTTTTTTTTTTTTT	UBE2T	ENSG00000077152.12	transcript	ENST00000646651.1	protein_coding	6/6			chr1	TogoVar
UBE2U_chr1_64198623_64272368	64239090	G G	GAAGAAGA others(16): Show GAAGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0199	1	326	0.0031	23	c.596 others(40): Show c.596-2561_596-2560insAGAAGAAGAAGAAGAAGAAGAAA	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
UBE2V1_chr20_50076124_50118150	50079375	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0043 a0001c0002t0007g0043	1	138	0.0072	23	c.33 others(34): Show c.3392_*3393insAAAAAAAAAAAAAAAAAAAAAAA	UBE2V1	ENSG00000244687.13	transcript	ENST00000371674.8	protein_coding		1748		chr20	TogoVar
UBE2W_chr8_73781219_73883862	73805454	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAACAAAAAA	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	83	0.0120	23	c.442 others(38): Show c.442+196_442+197insTTTTTTGTTTTTTTTTTTTTTTT	UBE2W	ENSG00000104343.21	transcript	ENST00000602593.6	protein_coding	5/5			chr8	TogoVar
UBE3A_chr15_25328728_25444024	25332812	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0273 a0001c0001t0044g0273	1	93	0.0108	23	c.63 others(34): Show c.6324_*6325insAAAAAAAAAAAAAAAAAAAAAAA	UBE3A	ENSG00000114062.22	transcript	ENST00000648336.2	protein_coding		915		chr15	TogoVar
UBE3A_chr15_25328728_25444024	25398767	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	277	0.0036	23	c.62+ others(38): Show c.62+6693_62+6694insTATATATATATATATATATATAT	UBE3A	ENSG00000114062.22	transcript	ENST00000648336.2	protein_coding	4/12			chr15	TogoVar
UBE3A_chr15_25328728_25444024	25430027	C C	CCTATATA others(16): Show CCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0057 a0001c0001t0018g0057	1	40	0.0250	23	c.-16 others(42): Show c.-165+8461_-165+8462insTATATATATATATATATATATAG	UBE3A	ENSG00000114062.22	transcript	ENST00000648336.2	protein_coding	1/12			chr15	TogoVar
UBE3A_chr15_25328728_25444024	25430027	C C	CTATATAT others(16): Show CTATATATATATATATATATATTA	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	40	0.0250	23	c.-16 others(42): Show c.-165+8461_-165+8462insTAATATATATATATATATATATA	UBE3A	ENSG00000114062.22	transcript	ENST00000648336.2	protein_coding	1/12			chr15	TogoVar
UBE4B_chr1_10027958_10186239	10028343	A A	ACCCCTCC others(16): Show ACCCCTCCCCCTCCCCCTCCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0008 a0001c0006t0008	a0001c0006t0008g0015 a0001c0006t0008g0015	1	213	0.0047	23	c.-53 others(34): Show c.-5328_-5327insCCCCTCCCCCTCCCCCTCCCCTC	UBE4B	ENSG00000130939.20	transcript	ENST00000343090.11	protein_coding		4614		chr1	TogoVar
UBE4B_chr1_10027958_10186239	10148331	C C	CTTAGCAA others(16): Show CTTAGCAAGAAGTCAAGAAGGCTG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0023 a0001c0017t0001g0023	1	220	0.0045	23	c.259 others(40): Show c.2592-852_2592-830dupTTAGCAAGAAGTCAAGAAGGCTG	UBE4B	ENSG00000130939.20	transcript	ENST00000343090.11	protein_coding	19/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
UBE4B_chr1_10027958_10186239	10183142	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 NA19030.hp1 HG01257.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0020 a0001c0003 a0001c0020	a0001c0003t0002 a0001c0020t0002 a0001c0003t0002 a0001c0020t0002	a0001c0003t0002g0003 a0001c0020t0002g0065 a0001c0003t0002g0003 a0001c0020t0002g0065	2	46	0.0435	23	c.31 others(34): Show c.3186_*3187insTTTTTTTTTTTTTTTTTTTTTTT	UBE4B	ENSG00000130939.20	transcript	ENST00000343090.11	protein_coding		1904		chr1	TogoVar
UBN2_chr7_139226237_139313236	139304706	G G	GTGTGTGT others(16): Show GTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0060 a0001c0002t0060	a0001c0002t0060g0135 a0001c0002t0060g0135	1	141	0.0071	23	c.68 others(34): Show c.6870_*6871insTGTGTGTGTGTGTGTGTGTGTGT	UBN2	ENSG00000157741.15	transcript	ENST00000473989.8	protein_coding	18/18	6871		chr7	TogoVar
UBR2_chr6_42559029_42698505	42619453	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0244 a0001c0001t0018g0244	1	54	0.0185	23	c.128 others(42): Show c.1281+1947_1281+1948insATATATATATATATATATTTTTT	UBR2	ENSG00000024048.11	transcript	ENST00000372901.2	protein_coding	11/46		INFO_REALIGN_3_PRIME	chr6	TogoVar
UBR3_chr2_169822454_170089131	169831127	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18962.hp2 HG03225.hp1 NA18962.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0147 a0001c0002t0002g0178 a0001c0002t0002g0147 a0001c0002t0002g0178	2	174	0.0115	23	c.545 others(40): Show c.545+3076_545+3077insATATATATATATATATATATATT	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	169831127	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0150 a0001c0002t0002g0150	1	173	0.0058	23	c.545 others(40): Show c.545+3076_545+3077insATATATATATATATATATTTTTT	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	170001912	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02135.hp1 NA18955.hp2 others(1): Show HG01516.hp1 HG02135.hp1 NA18955.hp2 NA19072.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0004 a0003c0012 a0001c0003 a0002c0004 a0003c0012	a0001c0003t0003 a0002c0004t0004 a0003c0012t0004 a0001c0003t0003 a0002c0004t0004 a0003c0012t0004	a0001c0003t0003g0320 a0002c0004t0004g0290 a0002c0004t0004g0291 others(1): Show a0001c0003t0003g0320 a0002c0004t0004g0290 a0002c0004t0004g0291 a0003c0012t0004g0300	4	115	0.0348	23	c.402 others(40): Show c.4029+506_4029+528dupAAAAAAAAAAAAAAAAAAAAAAA	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	27/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR4_chr1_19069510_19215266	19187083	T T	TATATATA others(16): Show TATATATATATACATATATATATC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0015 a0015	a0015c0041 a0015c0041	a0015c0041t0001 a0015c0041t0001	a0015c0041t0001g0186 a0015c0041t0001g0186	1	324	0.0031	23	c.163 others(38): Show c.1632+80_1632+81insGATATATATATGTATATATATAT	UBR4	ENSG00000127481.15	transcript	ENST00000375254.8	protein_coding	13/105			chr1	TogoVar
UBR4_chr1_19069510_19215266	19190312	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	155	0.0065	23	c.139 others(42): Show c.1394+1875_1394+1876insATATATATATTTTTTTTTTTTTT	UBR4	ENSG00000127481.15	transcript	ENST00000375254.8	protein_coding	11/105			chr1	TogoVar
UBR4_chr1_19069510_19215266	19190312	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	155	0.0065	23	c.139 others(42): Show c.1394+1875_1394+1876insATATATATATATATATATTTTTT	UBR4	ENSG00000127481.15	transcript	ENST00000375254.8	protein_coding	11/105			chr1	TogoVar
UBTD2_chr5_172204646_172288764	172251314	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAGAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02717.hp2 HG02630.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0001 a0001c0001t0009g0001	2	199	0.0101	23	c.71- others(40): Show c.71-16957_71-16956insTTTTTTTTCTTTTTTTTTTTTTT	UBTD2	ENSG00000168246.6	transcript	ENST00000393792.3	protein_coding	1/2			chr5	TogoVar
UBXN2B_chr8_58406361_58456501	58446779	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	49	0.0204	23	c.834 others(38): Show c.834-596_834-574dupTTTTTTTTTTTTTTTTTTTTTTT	UBXN2B	ENSG00000215114.10	transcript	ENST00000399598.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
UCHL3_chr13_75544791_75611020	75571974	C C	CCTGTCTG others(16): Show CCTGTCTGTCTTGTCTTGTCTTGT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	324	0.0031	23	c.474 others(40): Show c.474+2468_474+2469insTGTCTGTCTTGTCTTGTCTTGTC	UCHL3	ENSG00000118939.19	transcript	ENST00000377595.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UFSP2_chr4_185394537_185430964	185418068	A A	ACACACAC others(16): Show ACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0050	1	297	0.0034	23	c.333 others(38): Show c.333+372_333+373insGTGTGTGTGTGTGTGTGTGTGTG	UFSP2	ENSG00000109775.11	transcript	ENST00000264689.11	protein_coding	4/11			chr4	TogoVar
UGCG_chr9_111891814_111940369	111921802	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01516.hp2 HG02056.hp1 others(1): Show HG01258.hp2 HG01516.hp2 HG02056.hp1 NA18965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0037 a0001c0002t0002 a0001c0002t0037	a0001c0002t0002g0066 a0001c0002t0002g0118 a0001c0002t0002g0120 others(1): Show a0001c0002t0002g0066 a0001c0002t0002g0118 a0001c0002t0002g0120 a0001c0002t0037g0087	4	40	0.1000	23	c.241 others(40): Show c.241-1043_241-1021dupTTTTTTTTTTTTTTTTTTTTTTT	UGCG	ENSG00000148154.10	transcript	ENST00000374279.4	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
UGGT2_chr13_95796580_96058401	95807716	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0262 a0003c0003t0001g0262	1	91	0.0110	23	c.452 others(42): Show c.4529-5905_4529-5904insAAAAAAAAAAAAAAAAAAAAAAA	UGGT2	ENSG00000102595.22	transcript	ENST00000376747.8	protein_coding	38/38			chr13	TogoVar
UGGT2_chr13_95796580_96058401	95924393	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA19070.hp2 NA18992.hp2 NA19070.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0260 a0003c0003t0001g0271 a0003c0003t0001g0260 a0003c0003t0001g0271	2	30	0.0667	23	c.229 others(42): Show c.2295+1264_2295+1286dupAAAAAAAAAAAAAAAAAAAAAAA	UGGT2	ENSG00000102595.22	transcript	ENST00000376747.8	protein_coding	20/38			chr13	TogoVar
UGGT2_chr13_95796580_96058401	96054210	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00735.hp2 HG01069.hp1 others(9): Show HG00323.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG02809.hp1 NA18949.hp1 NA18957.hp1 NA18960.hp1 NA18984.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0013	a0001c0001 a0001c0004 a0003c0003 others(3): Show a0001c0001 a0001c0004 a0003c0003 a0004c0006 a0004c0010 a0013c0031	a0001c0001t0001 a0001c0004t0001 a0003c0003t0001 others(3): Show a0001c0001t0001 a0001c0004t0001 a0003c0003t0001 a0004c0006t0001 a0004c0010t0001 a0013c0031t0001	a0001c0001t0001g0059 a0001c0004t0001g0275 a0003c0003t0001g0168 others(9): Show a0001c0001t0001g0059 a0001c0004t0001g0275 a0003c0003t0001g0168 a0003c0003t0001g0243 a0003c0003t0001g0246 a0003c0003t0001g0252 a0003c0003t0001g0278 a0003c0003t0001g0282 a0004c0006t0001g0279 a0004c0010t0001g0155 a0004c0010t0001g0157 a0013c0031t0001g0138	12	13	0.9231	23	c.-89 others(32): Show c.-899_-898insTTTTTTTTTTTTTTTTTTTTTTT	UGGT2	ENSG00000102595.22	transcript	ENST00000376747.8	protein_coding		810		chr13	TogoVar
UGT1A10_chr2_233631448_233778300	233661680	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA19060.hp1 HG02809.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0198 a0001c0001t0002g0155 a0001c0001t0001g0198 a0001c0001t0002g0155	2	297	0.0067	23	c.855 others(42): Show c.855+24305_855+24306insCTTTCTTTCTTTCTTTCTTTCTT	UGT1A10	ENSG00000242515.6	transcript	ENST00000344644.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A8_chr2_233612633_233778300	233661680	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA19060.hp2 HG02809.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0147 a0001c0001t0002g0272 a0001c0001t0001g0147 a0001c0001t0002g0272	2	284	0.0070	23	c.855 others(42): Show c.855+43120_855+43121insCTTTCTTTCTTTCTTTCTTTCTT	UGT1A8	ENSG00000242366.4	transcript	ENST00000373450.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT3A2_chr5_36030021_36071882	36067822	G G	GAGAGAGA others(16): Show GAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	242	0.0041	23	c.-10 others(34): Show c.-1034_-1033insTCTCTCTCTCTCTCTCTCTCTCT	UGT3A2	ENSG00000168671.10	transcript	ENST00000282507.8	protein_coding		941		chr5	TogoVar
UGT3A2_chr5_36030021_36071882	36067865	G G	GAGAGAGA others(16): Show GAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	315	0.0032	23	c.-10 others(34): Show c.-1077_-1076insTCTCTCTCTCTCTCTCTCTCTCT	UGT3A2	ENSG00000168671.10	transcript	ENST00000282507.8	protein_coding		984		chr5	TogoVar
ULK1_chr12_131889622_131928150	131918881	T T	TGTGTGGG others(16): Show TGTGTGGGGTGTCGGGTGTGTGGG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0001 a0007c0015t0001	a0007c0015t0001g0219 a0007c0015t0001g0219	1	12	0.0833	23	c.251 others(40): Show c.2511+211_2511+212insCGGGTGTGTGGGGTGTGGGGTGT	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	23/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK4_chr3_41241599_41967103	41305192	C C	CTCTCCCT others(16): Show CTCTCCCTCTCCCTCTCCCCACGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp1 HG02257.hp1 others(5): Show HG01243.hp2 HG01891.hp1 HG02257.hp1 HG02615.hp1 HG02622.hp2 HG02818.hp2 HG03486.hp1 NA19043.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0016	a0001c0001 a0003c0016 a0004c0002 others(1): Show a0001c0001 a0003c0016 a0004c0002 a0016c0015	a0001c0001t0001 a0003c0016t0001 a0004c0002t0001 others(3): Show a0001c0001t0001 a0003c0016t0001 a0004c0002t0001 a0004c0002t0002 a0004c0002t0005 a0016c0015t0001	a0001c0001t0001g0032 a0003c0016t0001g0057 a0004c0002t0001g0006 others(5): Show a0001c0001t0001g0032 a0003c0016t0001g0057 a0004c0002t0001g0006 a0004c0002t0002g0007 a0004c0002t0002g0008 a0004c0002t0002g0009 a0004c0002t0005g0068 a0016c0015t0001g0005	8	52	0.1538	23	c.367 others(44): Show c.3679-55641_3679-55619dupCCGTGGGGAGAGGGAGAGGGAGA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	35/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41431547	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00735.hp1 HG01071.hp2 others(2): Show HG00621.hp1 HG00735.hp1 HG01071.hp2 HG01433.hp2 HG01515.hp2	a0001 a0006 a0007 others(1): Show a0001 a0006 a0007 a0015	a0001c0001 a0006c0007 a0007c0005 others(1): Show a0001c0001 a0006c0007 a0007c0005 a0015c0023	a0001c0001t0001 a0006c0007t0001 a0007c0005t0001 others(1): Show a0001c0001t0001 a0006c0007t0001 a0007c0005t0001 a0015c0023t0001	a0001c0001t0001g0039 a0001c0001t0001g0041 a0006c0007t0001g0034 others(2): Show a0001c0001t0001g0039 a0001c0001t0001g0041 a0006c0007t0001g0034 a0007c0005t0001g0066 a0015c0023t0001g0024	5	31	0.1613	23	c.349 others(44): Show c.3492+23949_3492+23950insAAAAAAAAAAAAAAAAAAAAAAA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	34/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41506766	A A	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	70	0.0143	23	c.322 others(44): Show c.3227-43514_3227-43513insATATATATATATATTTTTTTTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	32/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41506767	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG04184.hp2 HG02896.hp1 HG04184.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0003c0003t0001 a0001c0001t0003 a0003c0003t0001	a0001c0001t0003g0072 a0003c0003t0001g0061 a0001c0001t0003g0072 a0003c0003t0001g0061	2	22	0.0909	23	c.322 others(44): Show c.3227-43515_3227-43514insATATTTTTTTTTTTTTTTTTTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	32/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41901479	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01106.hp1 HG01106.hp2 others(4): Show HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01891.hp2 HG02258.hp1 HG02451.hp2 HG03486.hp1	a0001 a0003 a0013 a0001 a0003 a0013	a0001c0001 a0003c0003 a0003c0016 others(1): Show a0001c0001 a0003c0003 a0003c0016 a0013c0024	a0001c0001t0001 a0003c0003t0001 a0003c0016t0001 others(1): Show a0001c0001t0001 a0003c0003t0001 a0003c0016t0001 a0013c0024t0001	a0001c0001t0001g0031 a0001c0001t0001g0041 a0001c0001t0001g0055 others(4): Show a0001c0001t0001g0031 a0001c0001t0001g0041 a0001c0001t0001g0055 a0003c0003t0001g0059 a0003c0003t0001g0062 a0003c0016t0001g0057 a0013c0024t0001g0027	7	22	0.3182	23	c.118 others(40): Show c.1183-651_1183-650insAAAAAAAAAAAAAAAAAAAAAAA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	12/36			chr3	TogoVar
UMAD1_chr7_7635752_7884223	7678724	T T	TATATTTA others(16): Show TATATTTATATATTTAGTTTATAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02630.hp2 HG02895.hp1 others(4): Show HG02559.hp2 HG02630.hp2 HG02895.hp1 HG02970.hp2 HG03225.hp2 HG03516.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0020 a0001c0001t0024 others(3): Show a0001c0001t0008 a0001c0001t0020 a0001c0001t0024 a0001c0001t0026 a0001c0001t0028 a0001c0001t0035	a0001c0001t0008g0153 a0001c0001t0008g0154 a0001c0001t0020g0151 others(4): Show a0001c0001t0008g0153 a0001c0001t0008g0154 a0001c0001t0020g0151 a0001c0001t0024g0236 a0001c0001t0026g0230 a0001c0001t0028g0014 a0001c0001t0035g0156	7	243	0.0288	23	c.82+ others(38): Show c.82+5275_82+5276insTTATATATTTAGTTTATAAATAT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7767128	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA19088.hp1 NA19090.hp1 HG02056.hp1 NA19088.hp1 NA19090.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0003 a0001c0001t0083 a0003c0005t0002 a0001c0001t0003 a0001c0001t0083 a0003c0005t0002	a0001c0001t0003g0201 a0001c0001t0083g0130 a0003c0005t0002g0079 a0001c0001t0003g0201 a0001c0001t0083g0130 a0003c0005t0002g0079	3	149	0.0201	23	c.83- others(40): Show c.83-34528_83-34527insTTTTTTTTTTTTTTTTTTTTTTT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7777574	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0235 a0001c0001t0041g0235	1	70	0.0143	23	c.83- others(40): Show c.83-24096_83-24095insTATATATATATATATATATATAT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3			chr7	TogoVar
UMAD1_chr7_7635752_7884223	7796244	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02486.hp2 HG02071.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0061 a0001c0001t0005 a0001c0001t0061	a0001c0001t0005g0048 a0001c0001t0061g0158 a0001c0001t0005g0048 a0001c0001t0061g0158	2	27	0.0741	23	c.83- others(38): Show c.83-5424_83-5402dupTTTTTTTTTTTTTTTTTTTTTTT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7820195	G G	GTATGAGA others(16): Show GTATGAGATCTGAGGAAGATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(142): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00733.hp1 HG00733.hp2 HG01069.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01884.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 NA18747.hp1 NA18906.hp2 NA18949.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18968.hp1 NA18968.hp2 NA18975.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18999.hp1 NA19000.hp2 NA19001.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19076.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(60): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0049 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0001t0055 a0001c0001t0057 a0001c0001t0059 a0001c0001t0061 a0001c0001t0064 a0001c0001t0065 a0001c0001t0068 a0001c0001t0069 a0001c0001t0072 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0082 a0001c0001t0084 a0001c0002t0063 a0001c0002t0073 a0001c0004t0039 a0002c0003t0081	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0018 others(141): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0031 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0061 a0001c0001t0001g0187 a0001c0001t0001g0211 a0001c0001t0002g0025 a0001c0001t0002g0029 a0001c0001t0002g0033 a0001c0001t0002g0046 a0001c0001t0002g0060 a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0001t0002g0083 a0001c0001t0002g0116 a0001c0001t0002g0167 a0001c0001t0003g0126 a0001c0001t0003g0172 a0001c0001t0003g0174 a0001c0001t0003g0182 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0238 a0001c0001t0004g0091 a0001c0001t0004g0129 a0001c0001t0004g0142 a0001c0001t0004g0171 a0001c0001t0005g0008 a0001c0001t0005g0011 a0001c0001t0005g0024 a0001c0001t0005g0038 a0001c0001t0005g0048 a0001c0001t0005g0077 a0001c0001t0006g0093 a0001c0001t0006g0094 a0001c0001t0006g0096 a0001c0001t0006g0131 a0001c0001t0006g0170 a0001c0001t0006g0177 a0001c0001t0007g0034 a0001c0001t0007g0037 a0001c0001t0007g0059 a0001c0001t0007g0071 a0001c0001t0007g0105 a0001c0001t0007g0195 a0001c0001t0008g0058 a0001c0001t0008g0063 a0001c0001t0008g0154 a0001c0001t0008g0161 a0001c0001t0009g0022 a0001c0001t0009g0098 a0001c0001t0009g0193 a0001c0001t0009g0194 a0001c0001t0010g0097 a0001c0001t0010g0100 a0001c0001t0010g0168 a0001c0001t0011g0023 a0001c0001t0011g0044 a0001c0001t0011g0045 a0001c0001t0012g0057 a0001c0001t0012g0080 a0001c0001t0012g0087 a0001c0001t0012g0108 a0001c0001t0012g0197 a0001c0001t0013g0049 a0001c0001t0013g0084 a0001c0001t0013g0104 a0001c0001t0013g0127 a0001c0001t0014g0003 a0001c0001t0014g0017 a0001c0001t0015g0111 a0001c0001t0015g0137 a0001c0001t0017g0133 a0001c0001t0017g0202 a0001c0001t0018g0106 a0001c0001t0018g0181 a0001c0001t0018g0198 a0001c0001t0019g0078 a0001c0001t0019g0192 a0001c0001t0020g0028 a0001c0001t0021g0006 a0001c0001t0021g0027 a0001c0001t0021g0042 a0001c0001t0022g0239 a0001c0001t0022g0244 a0001c0001t0024g0141 a0001c0001t0024g0236 a0001c0001t0025g0001 a0001c0001t0026g0056 a0001c0001t0026g0191 a0001c0001t0026g0230 a0001c0001t0027g0221 a0001c0001t0027g0234 a0001c0001t0028g0014 a0001c0001t0029g0215 a0001c0001t0029g0217 a0001c0001t0030g0243 a0001c0001t0030g0248 a0001c0001t0031g0209 a0001c0001t0031g0246 a0001c0001t0033g0088 a0001c0001t0034g0164 a0001c0001t0035g0156 a0001c0001t0035g0228 a0001c0001t0036g0231 a0001c0001t0037g0220 a0001c0001t0038g0199 a0001c0001t0040g0005 a0001c0001t0040g0224 a0001c0001t0041g0235 a0001c0001t0044g0121 a0001c0001t0045g0212 a0001c0001t0047g0183 a0001c0001t0049g0013 a0001c0001t0051g0128 a0001c0001t0052g0134 a0001c0001t0054g0233 a0001c0001t0055g0237 a0001c0001t0057g0122 a0001c0001t0059g0157 a0001c0001t0061g0158 a0001c0001t0064g0190 a0001c0001t0065g0214 a0001c0001t0068g0139 a0001c0001t0069g0051 a0001c0001t0072g0026 a0001c0001t0075g0016 a0001c0001t0076g0218 a0001c0001t0077g0180 a0001c0001t0078g0149 a0001c0001t0082g0068 a0001c0001t0084g0188 a0001c0002t0063g0155 a0001c0002t0073g0241 a0001c0004t0039g0159 a0002c0003t0081g0072	145	248	0.5847	23	c.156 others(42): Show c.156+18459_156+18460insTCTGAGGAAGATATATTATGAGA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7840503	C C	CATTGCCA others(16): Show CATTGCCAAGCCAATTCTTCTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(93): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00639.hp1 HG00733.hp2 HG00741.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01993.hp2 HG02004.hp2 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03579.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03927.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp1 NA18522.hp1 NA18906.hp1 NA18952.hp2 NA18960.hp1 NA18975.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA19000.hp1 NA19004.hp2 NA19005.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(52): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0001c0001t0047 a0001c0001t0048 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0058 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0064 a0001c0001t0067 a0001c0001t0071 a0001c0001t0075 a0001c0001t0076 a0001c0001t0078 a0001c0001t0079 a0001c0001t0084 a0001c0002t0001 a0001c0002t0063 a0001c0004t0039 a0002c0003t0001	a0001c0001t0001g0010 a0001c0001t0001g0031 a0001c0001t0001g0053 others(92): Show a0001c0001t0001g0010 a0001c0001t0001g0031 a0001c0001t0001g0053 a0001c0001t0001g0061 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0187 a0001c0001t0001g0211 a0001c0001t0002g0015 a0001c0001t0002g0032 a0001c0001t0002g0070 a0001c0001t0003g0107 a0001c0001t0003g0126 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0182 a0001c0001t0003g0201 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0004g0012 a0001c0001t0004g0091 a0001c0001t0005g0035 a0001c0001t0006g0093 a0001c0001t0006g0096 a0001c0001t0006g0177 a0001c0001t0006g0184 a0001c0001t0008g0069 a0001c0001t0008g0161 a0001c0001t0009g0022 a0001c0001t0011g0065 a0001c0001t0013g0124 a0001c0001t0013g0127 a0001c0001t0014g0009 a0001c0001t0014g0017 a0001c0001t0014g0219 a0001c0001t0015g0111 a0001c0001t0015g0137 a0001c0001t0016g0146 a0001c0001t0016g0148 a0001c0001t0021g0042 a0001c0001t0022g0120 a0001c0001t0022g0244 a0001c0001t0023g0245 a0001c0001t0023g0249 a0001c0001t0024g0040 a0001c0001t0024g0236 a0001c0001t0025g0001 a0001c0001t0025g0095 a0001c0001t0026g0230 a0001c0001t0027g0221 a0001c0001t0027g0232 a0001c0001t0027g0234 a0001c0001t0028g0014 a0001c0001t0028g0019 a0001c0001t0029g0226 a0001c0001t0032g0020 a0001c0001t0033g0088 a0001c0001t0033g0204 a0001c0001t0035g0156 a0001c0001t0036g0163 a0001c0001t0037g0220 a0001c0001t0037g0229 a0001c0001t0038g0089 a0001c0001t0038g0199 a0001c0001t0040g0005 a0001c0001t0040g0224 a0001c0001t0041g0235 a0001c0001t0042g0162 a0001c0001t0044g0121 a0001c0001t0047g0183 a0001c0001t0048g0186 a0001c0001t0052g0134 a0001c0001t0053g0021 a0001c0001t0054g0233 a0001c0001t0055g0237 a0001c0001t0056g0064 a0001c0001t0058g0165 a0001c0001t0060g0213 a0001c0001t0061g0158 a0001c0001t0062g0223 a0001c0001t0064g0190 a0001c0001t0067g0227 a0001c0001t0071g0004 a0001c0001t0075g0016 a0001c0001t0076g0218 a0001c0001t0078g0149 a0001c0001t0079g0150 a0001c0001t0084g0188 a0001c0002t0001g0196 a0001c0002t0063g0155 a0001c0004t0039g0159 a0002c0003t0001g0047	96	248	0.3871	23	c.157 others(42): Show c.157-36764_157-36763insTCTTCTTTTATTGCCAAGCCAAT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMOD_chr16_20328051_20357715	20345400	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0056 a0001c0003t0002g0056	1	333	0.0030	23	c.118 others(40): Show c.1182+725_1182+726insGAAAGAAAGAAAGAAAGAAAGAA	UMOD	ENSG00000169344.16	transcript	ENST00000396138.9	protein_coding	5/10			chr16	TogoVar
UNC13A_chr19_17596336_17693354	17608385	T T	TATATATA others(16): Show TATATATATTATATATGTATATAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00741.hp1 HG01070.hp1 others(13): Show HG00733.hp2 HG00741.hp1 HG01070.hp1 HG01168.hp1 HG01169.hp1 HG01261.hp1 HG01496.hp2 HG01516.hp2 HG02145.hp1 HG02280.hp1 HG02451.hp1 HG03130.hp1 HG03831.hp2 NA19043.hp2 NA20752.hp1 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0007 a0001c0011 others(7): Show a0001c0002 a0001c0007 a0001c0011 a0001c0020 a0001c0024 a0001c0066 a0002c0005 a0002c0009 a0004c0048 a0004c0065	a0001c0002t0005 a0001c0002t0019 a0001c0002t0020 others(10): Show a0001c0002t0005 a0001c0002t0019 a0001c0002t0020 a0001c0007t0005 a0001c0011t0020 a0001c0020t0005 a0001c0024t0019 a0001c0066t0019 a0002c0005t0020 a0002c0009t0005 a0002c0009t0043 a0004c0048t0005 a0004c0065t0005	a0001c0002t0005g0120 a0001c0002t0019g0092 a0001c0002t0020g0025 others(13): Show a0001c0002t0005g0120 a0001c0002t0019g0092 a0001c0002t0020g0025 a0001c0007t0005g0173 a0001c0011t0020g0035 a0001c0020t0005g0076 a0001c0024t0019g0100 a0001c0066t0019g0043 a0002c0005t0020g0088 a0002c0009t0005g0006 a0002c0009t0005g0007 a0002c0009t0005g0008 a0002c0009t0005g0182 a0002c0009t0043g0226 a0004c0048t0005g0177 a0004c0065t0005g0134	16	318	0.0503	23	c.481 others(42): Show c.4811+1554_4811+1555insTTATATACATATATAATATATAT	UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	43/43			chr19	TogoVar
UNC13A_chr19_17596336_17693354	17631203	C C	CCTCCCTT others(16): Show CCTCCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02809.hp1 HG02647.hp1 HG02809.hp1	a0001 a0001	a0001c0056 a0001c0057 a0001c0056 a0001c0057	a0001c0056t0002 a0001c0057t0024 a0001c0056t0002 a0001c0057t0024	a0001c0056t0002g0155 a0001c0057t0024g0233 a0001c0056t0002g0155 a0001c0057t0024g0233	2	316	0.0063	23	c.342 others(40): Show c.3429-454_3429-453insAAGGAAGGAAGGAAGGAAGGGAG	UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	28/43			chr19	TogoVar

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